Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1380321151

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:98735602 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/248778, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKS1B : Missense Variant
APAF1 : 500B Downstream Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 248778 T=0.999996 G=0.000004
gnomAD - Exomes European Sub 134342 T=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 48492 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 34400 T=1.00000 G=0.00000
gnomAD - Exomes African Sub 15474 T=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10048 T=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6022 T=1.0000 G=0.0000
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.98735602T>G
GRCh37.p13 chr 12 NC_000012.11:g.99129380T>G
ANKS1B RefSeqGene NG_029860.2:g.1254053A>C
APAF1 RefSeqGene NG_029094.1:g.95303T>G
Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKS1B transcript variant 4 NM_001204065.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 5 NM_001204066.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 6 NM_001204067.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 7 NM_001204068.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 8 NM_001204069.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 9 NM_001204070.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 10 NM_001204079.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 11 NM_001204080.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 16 NM_001352185.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 13 NM_001352186.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 15 NM_001352187.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 14 NM_001352188.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 24 NM_001352189.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 25 NM_001352190.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 34 NM_001352191.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 29 NM_001352192.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 28 NM_001352193.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 32 NM_001352194.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 19 NM_001352195.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 17 NM_001352198.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 30 NM_001352199.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 22 NM_001352200.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 33 NM_001352201.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 23 NM_001352202.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 31 NM_001352203.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 21 NM_001352204.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 18 NM_001352205.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 27 NM_001352206.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 39 NM_001352207.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 36 NM_001352208.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 40 NM_001352209.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 43 NM_001352210.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 44 NM_001352211.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 45 NM_001352212.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 49 NM_001352217.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 46 NM_001352218.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 35 NM_001352219.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 47 NM_001352220.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 41 NM_001352221.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 37 NM_001352222.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 48 NM_001352224.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 42 NM_001352225.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 2 NM_181670.4:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant 1 NM_152788.4:c.3705A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a NP_690001.3:p.Glu1235Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 12 NM_001204081.2:c.723A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l NP_001191010.1:p.Glu241Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 52 NM_001352216.2:c.498A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339145.1:p.Glu166Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 26 NM_001352197.2:c.1383A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w NP_001339126.1:p.Glu461Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 51 NM_001352214.2:c.498A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339143.1:p.Glu166Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 50 NM_001352213.2:c.498A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339142.1:p.Glu166Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 3 NM_020140.4:c.1203A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c NP_064525.1:p.Glu401Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 20 NM_001352196.2:c.1455A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s NP_001339125.1:p.Glu485Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant 38 NM_001352223.2:c.798A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh NP_001339152.1:p.Glu266Asp E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant X6 XM_005269029.6:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X1 XM_006719504.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X2 XM_006719505.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X5 XM_006719508.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X8 XM_006719510.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X9 XM_006719512.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X10 XM_006719513.5:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X7 XM_011538571.4:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X3 XM_017019652.3:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X13 XM_024449060.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X14 XM_024449061.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X18 XM_024449065.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X20 XM_024449069.2:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X12 XM_047429164.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X15 XM_047429165.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X16 XM_047429166.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X17 XM_047429167.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X19 XM_047429168.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X21 XM_047429169.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X22 XM_047429170.1:c. N/A Genic Downstream Transcript Variant
ANKS1B transcript variant X4 XM_006719507.5:c.3780A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X4 XP_006719570.1:p.Glu1260A…

XP_006719570.1:p.Glu1260Asp

 		E (Glu) > D (Asp) Missense Variant
ANKS1B transcript variant X11 XM_006719514.5:c.3513A>C E [GAA] > D [GAC] Coding Sequence Variant
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X11 XP_006719577.1:p.Glu1171A…

XP_006719577.1:p.Glu1171Asp

 		E (Glu) > D (Asp) Missense Variant
Gene: APAF1, apoptotic peptidase activating factor 1 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
APAF1 transcript variant 2 NM_001160.3:c. N/A Downstream Transcript Variant
APAF1 transcript variant 1 NM_013229.3:c. N/A Downstream Transcript Variant
APAF1 transcript variant 3 NM_181861.2:c. N/A Downstream Transcript Variant
APAF1 transcript variant 4 NM_181868.2:c. N/A Downstream Transcript Variant
APAF1 transcript variant 5 NM_181869.2:c. N/A Downstream Transcript Variant
APAF1 transcript variant X1 XM_047428758.1:c. N/A Downstream Transcript Variant
APAF1 transcript variant X4 XM_017019250.2:c. N/A N/A
APAF1 transcript variant X2 XM_047428759.1:c. N/A N/A
APAF1 transcript variant X3 XM_047428760.1:c. N/A N/A
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= G
GRCh38.p14 chr 12 NC_000012.12:g.98735602= NC_000012.12:g.98735602T>G
GRCh37.p13 chr 12 NC_000012.11:g.99129380= NC_000012.11:g.99129380T>G
ANKS1B RefSeqGene NG_029860.2:g.1254053= NG_029860.2:g.1254053A>C
ANKS1B transcript variant 1 NM_152788.4:c.3705= NM_152788.4:c.3705A>C
ANKS1B transcript variant 3 NM_020140.4:c.1203= NM_020140.4:c.1203A>C
ANKS1B transcript variant 3 NM_020140.3:c.1203= NM_020140.3:c.1203A>C
ANKS1B transcript variant 20 NM_001352196.2:c.1455= NM_001352196.2:c.1455A>C
ANKS1B transcript variant 20 NM_001352196.1:c.1455= NM_001352196.1:c.1455A>C
ANKS1B transcript variant 26 NM_001352197.2:c.1383= NM_001352197.2:c.1383A>C
ANKS1B transcript variant 26 NM_001352197.1:c.1383= NM_001352197.1:c.1383A>C
ANKS1B transcript variant 38 NM_001352223.2:c.798= NM_001352223.2:c.798A>C
ANKS1B transcript variant 38 NM_001352223.1:c.798= NM_001352223.1:c.798A>C
ANKS1B transcript variant 12 NM_001204081.2:c.723= NM_001204081.2:c.723A>C
ANKS1B transcript variant 12 NM_001204081.1:c.723= NM_001204081.1:c.723A>C
ANKS1B transcript variant 51 NM_001352214.2:c.498= NM_001352214.2:c.498A>C
ANKS1B transcript variant 51 NM_001352214.1:c.498= NM_001352214.1:c.498A>C
ANKS1B transcript variant 50 NM_001352213.2:c.498= NM_001352213.2:c.498A>C
ANKS1B transcript variant 50 NM_001352213.1:c.498= NM_001352213.1:c.498A>C
ANKS1B transcript variant 52 NM_001352216.2:c.498= NM_001352216.2:c.498A>C
ANKS1B transcript variant 52 NM_001352216.1:c.498= NM_001352216.1:c.498A>C
APAF1 RefSeqGene NG_029094.1:g.95303= NG_029094.1:g.95303T>G
ANKS1B transcript variant X4 XM_006719507.5:c.3780= XM_006719507.5:c.3780A>C
ANKS1B transcript variant X4 XM_006719507.4:c.3780= XM_006719507.4:c.3780A>C
ANKS1B transcript variant X6 XM_006719507.3:c.3780= XM_006719507.3:c.3780A>C
ANKS1B transcript variant X7 XM_006719507.2:c.3780= XM_006719507.2:c.3780A>C
ANKS1B transcript variant X9 XM_006719507.1:c.3780= XM_006719507.1:c.3780A>C
ANKS1B transcript variant X11 XM_006719514.5:c.3513= XM_006719514.5:c.3513A>C
ANKS1B transcript variant X17 XM_006719514.4:c.3513= XM_006719514.4:c.3513A>C
ANKS1B transcript variant X21 XM_006719514.3:c.3513= XM_006719514.3:c.3513A>C
ANKS1B transcript variant X18 XM_006719514.2:c.3513= XM_006719514.2:c.3513A>C
ANKS1B transcript variant X16 XM_006719514.1:c.3513= XM_006719514.1:c.3513A>C
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a NP_690001.3:p.Glu1235= NP_690001.3:p.Glu1235Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c NP_064525.1:p.Glu401= NP_064525.1:p.Glu401Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s NP_001339125.1:p.Glu485= NP_001339125.1:p.Glu485Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w NP_001339126.1:p.Glu461= NP_001339126.1:p.Glu461Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh NP_001339152.1:p.Glu266= NP_001339152.1:p.Glu266Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l NP_001191010.1:p.Glu241= NP_001191010.1:p.Glu241Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339143.1:p.Glu166= NP_001339143.1:p.Glu166Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339142.1:p.Glu166= NP_001339142.1:p.Glu166Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn NP_001339145.1:p.Glu166= NP_001339145.1:p.Glu166Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X4 XP_006719570.1:p.Glu1260= XP_006719570.1:p.Glu1260Asp
ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform X11 XP_006719577.1:p.Glu1171= XP_006719577.1:p.Glu1171Asp
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740056554 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000012.11 - 99129380 Jul 13, 2019 (153)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9292359, ss2740056554 NC_000012.11:99129379:T:G NC_000012.12:98735601:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1380321151

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d